Hirao Maki, Watanabe Kentaro, Tsukada Yuiko, Kunieda Hisako, Osada Makoto, Yamazaki Kohei, Denda Ryunosuke, Okamoto Shinichiro, Kikuchi Takahide
Division of Hematology, Department of Medicine, Saiseikai Central Hospital, Tokyo, Japan.
Leuk Res Rep. 2022 Apr 12;17:100311. doi: 10.1016/j.lrr.2022.100311. eCollection 2022.
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disease accompanied by mutations in . Here, we present a patient with CNL who developed to acute myeloid leukemia (AML) at the same time that a t(4;12)(q12;p13) translocation appeared. The uniqueness of this cytogenetic abnormality led us to delineate the molecular aberrations relevant for clonal evolution. While the mutation was present throughout the course of the disease, the mutation was newly acquired at the AML transformation. The present case suggests that careful monitoring of t(4;12)(q12;p13) and is crucial to predict AML evolution in CNL patients.
慢性中性粒细胞白血病（CNL）是一种罕见的骨髓增殖性疾病，伴有……突变。在此，我们报告一名患有CNL的患者，在出现t(4;12)(q12;p13)易位的同时发展为急性髓系白血病（AML）。这种细胞遗传学异常的独特性促使我们描绘与克隆进化相关的分子畸变。虽然……突变在疾病全过程中都存在，但……突变是在AML转化时新获得的。本病例提示，对t(4;12)(q12;p13)和……进行仔细监测对于预测CNL患者的AML演变至关重要。
